Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.310 GermlineCausalMutation disease ORPHANET Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.310 GeneticVariation disease BEFREE We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations. 23830514 2013